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Literature DB >> 6411474

Demyelination and disturbed metabolism of pyruvate: a case report.

R C Sengers, J M Trijbels, J A Bakkeren, W Ruitenbeek, A J Janssen, A M Stadhouders, H J ter Laak.

Abstract

A patient with demyelination is described. Lactate levels were elevated in serum, urine, and cerebrospinal fluid. A decreased pyruvate oxidation rate due to a pyruvate dehydrogenase complex deficiency was demonstrated in muscle and cultured fibroblasts. In muscle mitochondria no structural abnormalities were seen. The clinical course was progressive and the patient died at the age of 6 months.

Entities: Chemical Disease Species

Mesh：

Substances：
Pyruvates

Year: 1983 PMID： 6411474 DOI： 10.1007/BF00441661

Source DB: PubMed Journal: Eur J Pediatr ISSN： 0340-6199 Impact factor: 3.183

10 in total

1. Pyruvate oxidation in rat and human skeletal muscle mitochondria.

Authors: H Bookelman; J M Trijbels; R C Sengers; A J Janssen; J H Veerkamp; A M Stadhouders
Journal: Biochem Med Date: 1978-12

2. Low activities of the pyruvate and oxoglutarate dehydrogenase complexes in five patients with Friedreich's ataxia.

Authors: J P Blass; R A Kark; N K Menon
Journal: N Engl J Med Date: 1976-07-08 Impact factor: 91.245

3. Pyruvate carboxylase and phosphoenolpyruvate carboxykinase activity in leukocytes and fibroblasts from a patient with pyruvate carboxylase deficiency.

Authors: B M Atkin; M F Utter; M B Weinberg
Journal: Pediatr Res Date: 1979-01 Impact factor: 3.756

4. Sensitivity to carbohydrate in a patient with familial intermittent lactic acidosis and pyruvate dehydrogenase deficiency.

Authors: S D Cederbaum; J P Blass; N Minkoff; W J Brown; M E Cotton; S H Harris
Journal: Pediatr Res Date: 1976-08 Impact factor: 3.756

5. Neonatal congenital lactic acidosis with pyruvate carboxylase deficiency in two siblings.

Authors: J M Saudubray; C Marsac; C L Cathelineau; M Besson Leaud; J P Leroux
Journal: Acta Paediatr Scand Date: 1976-11

6. Fatal lactic acidosis in a newborn attributable to a congenital defect of pyruvate dehydrogenase.

Authors: J H Strömme; O Borud; P J Moe
Journal: Pediatr Res Date: 1976-01 Impact factor: 3.756

7. Determination of pyruvate oxidation rate and citric acid cycle activity in intact human leukocytes and fibroblasts.

Authors: H L Willems; T F de Kort; F J Trijbels; L A Monnens; J H Veerkamp
Journal: Clin Chem Date: 1978-02 Impact factor: 8.327

Review 8. Dysmyelination revisited.

Authors: C M Poser
Journal: Arch Neurol Date: 1978-07

9. Deficiency of dihydrolipoyl dehydrogenase (a component of the pyruvate and alpha-ketoglutarate dehydrogenase complexes): a cause of congenital chronic lactic acidosis in infancy.

Authors: B H Robinson; J Taylor; W G Sherwood
Journal: Pediatr Res Date: 1977-12 Impact factor: 3.756

10. Estimation of energy metabolism in human skeletal muscle homogenate as a diagnostic aid.

Authors: W Ruitenbeek; R C Sengers; J M Trijbels; A M Stadhouders; A J Janssen
Journal: J Inherit Metab Dis Date: 1981 Impact factor: 4.982